Stickler syndrome, type 5
Findings
No curated finding names Stickler syndrome, type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013666), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- High myopiaHPOHP:0011003
- 8 of 8 reported patients
- Midface retrusionHPOHP:0011800
- 8 of 8 reported patients
- Retinal detachmentHPOHP:0000541
- 8 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 8 of 8 reported patients
- Short chinHPOHP:0000331
- 8 of 8 reported patients
- Short statureHPOHP:0004322
- 8 of 8 reported patients
- VitreoretinopathyHPOHP:0007773
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL9A2HGNC:2218
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Stickler syndrome, type 5
- Also called
- autosomal recessive Stickler syndrome caused by mutation in COL9A2COL9A2 autosomal recessive Stickler syndrome